Variant (rsID / SNP)

rs193922401

rs193922401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,417,461. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCC8Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:17417461
Cytoband: 11p15.1
HGVS: NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)
Allele change: Missense_R1379L

Associated conditions / phenotypes

Neonatal diabetes mellitus

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.